Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)

Key Facts

Status: Forecasted

Posted date: October 30, 2024

Archive date: February 12, 2028

Close date: January 7, 2028

Opportunity ID: 356909

Opportunity number: PAR-25-185

Opportunity category: Discretionary

Agency name: National Institutes of Health

Agency code: HHS-NIH11

Award floor: $0

Award ceiling: $0

Cost sharing required: No

Funding Instrument Types
  • Grant
Category of Funding Activity
  • Health
  • Income Security and Social Services
Eligible Applicants
  • City or township governments
  • County governments
  • For-profit organizations other than small businesses
  • Independent school districts
  • Native American tribal governments (Federally recognized)
  • Native American tribal organizations (other than Federally recognized tribal governments)
  • Nonprofits having a 501 (c) (3) status with the IRS, other than institutions of higher education
  • Nonprofits that do not have a 501 (c) (3) status with the IRS, other than institutions of higher education
  • Others
  • Private institutions of higher education
  • Public and State controlled institutions of higher education
  • Public housing authorities/Indian housing authorities
  • Small businesses
  • Special district governments
  • State governments
Tools
Categories (use these for quoted searches)
  • agency_code:hhs_nih11
  • category_of_funding_activity:health
  • category_of_funding_activity:income_security_and_social_services
  • cost_sharing_or_matching_requirement:false
  • eligible_applicants:city_or_township_governments
  • eligible_applicants:county_governments
  • eligible_applicants:for_profit_organizations_other_than_small_businesses
  • eligible_applicants:independent_school_districts
  • eligible_applicants:native_american_tribal_governments_federally_recognized
  • eligible_applicants:native_american_tribal_organizations_other_than_federally_recognized_tribal_governments
  • eligible_applicants:nonprofits_having_a_501_c_3_status_with_the_irs_other_than_institutions_of_higher_education
  • eligible_applicants:nonprofits_that_do_not_have_a_501_c_3_status_with_the_irs_other_than_institutions_of_higher_education
  • eligible_applicants:others
  • eligible_applicants:private_institutions_of_higher_education
  • eligible_applicants:public_and_state_controlled_institutions_of_higher_education
  • eligible_applicants:public_housing_authoritiesindian_housing_authorities
  • eligible_applicants:small_businesses
  • eligible_applicants:special_district_governments
  • eligible_applicants:state_governments
  • funding_instrument_type:grant
  • opportunity_category:discretionary
  • status:forecasted
Description

Rapid advances in genotyping and next generation sequencing technologies have led to the identification of genetic variants that are associated with a wide variety of congenital defects including human congenital anomalies (HCAs), intellectual developmental disabilities (IDDs) and inborn errors of metabolism (IEMs). Large quantities of genomic data collected from pediatric congenital anomalies cohorts are available to the research community through several databases such as the Database of Genotypes and Phenotypes (dbGaP), the Gabriella Miller Kids First Data Resource Portal, the European Genome-Phenome Archive and Clinical Genome Resource (ClinGen). The purpose of this initiative is to promote the screening, functional validation and characterization of congenital anomaly-associated genetic variants identified through public facing databases and individual efforts using in-silico tools, appropriate animal models, in vitro systems or multi-pronged approaches. This initiative addresses a challenging gap between identifying sequence variations of potential interest and recognizing which of those variations have functional effects on the phenotype of interest.

Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)
Rapid advances in genotyping and next generation sequencing technologies have led to the identification of genetic variants that are associated with a wide variety of congenital defects including human congenital anomalies (HCAs), intellectual developmental disabilities (IDDs) and inborn errors of metabolism (IEMs). Large quantities of genomic data collected from pediatric congenital anomalies cohorts are available to the research community through several databases such as the Database of Genotypes and Phenotypes (dbGaP), the Gabriella Miller Kids First Data Resource Portal, the European Genome-Phenome Archive and Clinical Genome Resource (ClinGen). The purpose of this initiative is to promote the screening, functional validation and characterization of congenital anomaly-associated genetic variants identified through public facing databases and individual efforts using in-silico tools, appropriate animal models, in vitro systems or multi-pronged approaches. This initiative addresses a challenging gap between identifying sequence variations of potential interest and recognizing which of those variations have functional effects on the phenotype of interest.
[Forecasted] Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)
Forecasted
National Institutes of Health
Health
Income Security and Social Services
Grant
State governments
County governments
City or township governments
Special district governments
Independent school districts
Public and State controlled institutions of higher education
Native American tribal governments (Federally recognized)
Public housing authorities/Indian housing authorities
Native American tribal organizations (other than Federally recognized tribal governments)
Nonprofits having a 501 (c) (3) status with the IRS, other than institutions of higher education
Nonprofits that do not have a 501 (c) (3) status with the IRS, other than institutions of higher education
Private institutions of higher education
For-profit organizations other than small businesses
Small businesses
Others
2024-10-30